A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581899



Internal ID18710097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:749297..775511hg38UCSC Ensembl
Innerchr16:799297..825511hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3826215
hg1926215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv772e212
Supporting Variantsessv9809633, essv9809636, essv9809635, essv9809634, essv9809631
Samples400449PK, 401303FM, 401353BC, 400416KA, 401499JR
Known GenesMIR662, MSLN
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3581899
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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